Étude de l'immunopathogénèse dans le déficit immunitaire commun variable et les erreurs innées de l'immunité associées

The purpose of this protocol is to carry out laboratory studies concerning the immunopathogenesis of Common Variable Immunodeficiency (CVI) and related inborn errors of immunity (IEI). Additionally, we aim to document and track the progression of known complications of these immune abnormalities. Complications associated with CVI include recurrent respiratory, granulomas, pulmonary insufficiency, gastrointestinal bacterial infections, enteropathy, nodular regenerative hyperplasia, lymphoid malignancy, and various autoimmune manifestations. Patients with CVI and related IEI will be enrolled into this natural history study. Protocol procedures will include baseline measurements of and changes in lab studies. First- or second-degree genetically related family members (limited to mother, father, siblings, grandparents, children, aunts, uncles, and first cousins of an affected patient) may also be screened for clinical, in vitro, and genetic correlates of immune abnormalities. Changes in the patients' clinical state will be measured to determine the precursors of disease complications. This may lead to developments in improving preventive measures and novel treatment options for this population.